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SLC19A1
The SLC19A1 gene encodes the reduced folate carrier 1 (RFC1), a key transporter responsible for moving folate and folate derivatives into cells. This transport system is vital for cellular uptake of folate, which is necessary for DNA synthesis, repair, methylation processes, and red blood cell formation. Variants in this gene may impair folate transport, potentially leading to reduced intracellular folate even when dietary levels are sufficient. Such dysfunctions have been linked to developmental issues, fatigue, cognitive concerns, and elevated homocysteine levels.
Description
What does the SLC19A1 gene do?
It codes for the reduced folate carrier (RFC1), a protein that transports folate into cells.
Why is folate transport important?
Proper transport ensures that cells receive enough folate to support DNA synthesis, methylation, and overall cellular function.
What happens if there’s a variant in the SLC19A1 gene?
It can impair folate absorption at the cellular level, potentially leading to deficiency symptoms even with normal dietary intake.
What symptoms can be associated with impaired folate transport?
Fatigue, poor concentration, elevated homocysteine, and increased risk of neural tube defects or cardiovascular issues.
